Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes

A. D'Amico; G. Haliloglu; P. Richard; B. Talim; S. Maugenre; A. Ferreiro; P. Guicheney; I. Menditto; S. Benedetti; E. Bertini; G. Bonne; H. Topaloglu

doi:10.1016/j.nmd.2005.03.006

Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes

A. D'Amico, G. Haliloglu, P. Richard, B. Talim, S. Maugenre, A. Ferreiro, P. Guicheney, I. Menditto, S. Benedetti, E. Bertini, G. Bonne, H. Topaloglu

Research output: Contribution to journal › Article › peer-review

Abstract

Dropped head syndrome is characterized by severe weakness of neck extensor muscles with sparing of the flexors. It is a prominent sign in several neuromuscular conditions, but it may also be an isolated feature with uncertain aetiology. We report two children in whom prominent weakness of neck extensor muscles is associated with mutations in lamin A/C (LMNA) and selenoprotein N1 (SEPN1) genes, respectively. This report expands the underlying causes of the dropped head syndrome which may be the presenting feature of a congenital muscular dystrophy.

Original language	English
Pages (from-to)	521-524
Number of pages	4
Journal	Neuromuscular Disorders
Volume	15
Issue number	8
DOIs	https://doi.org/10.1016/j.nmd.2005.03.006
Publication status	Published - Aug 2005

Keywords

Congenital muscular dystrophy
Dropped head
Lamin A/C
SEPN1

ASJC Scopus subject areas

Clinical Neurology
Pediatrics, Perinatology, and Child Health
Developmental Neuroscience
Neurology

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Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes. / D'Amico, A.; Haliloglu, G.; Richard, P.; Talim, B.; Maugenre, S.; Ferreiro, A.; Guicheney, P.; Menditto, I.; Benedetti, S.; Bertini, E.; Bonne, G.; Topaloglu, H.

In: Neuromuscular Disorders, Vol. 15, No. 8, 08.2005, p. 521-524.

Research output: Contribution to journal › Article › peer-review

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AU - Maugenre, S.

AU - Ferreiro, A.

AU - Guicheney, P.

AU - Menditto, I.

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AU - Bertini, E.

AU - Bonne, G.

AU - Topaloglu, H.

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